Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	29911
Gene name Gene Name - the full gene name approved by the HGNC.	Hook microtubule tethering protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HOOK2
Synonyms (NCBI Gene) Gene synonyms aliases	HK2
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19p13.13
Summary Summary of gene provided in NCBI Entrez Gene.	Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocyt

Show/Hide all(11)

miRTarBase ID	miRNA	Experiments
MIRT1052734	hsa-miR-1293	CLIP-seq
MIRT1052735	hsa-miR-4483	CLIP-seq
MIRT1052736	hsa-miR-4786-3p	CLIP-seq
MIRT1052737	hsa-miR-671-5p	CLIP-seq
MIRT2011986	hsa-miR-1200	CLIP-seq
MIRT2011987	hsa-miR-1827	CLIP-seq
MIRT2011988	hsa-miR-1976	CLIP-seq
MIRT2011989	hsa-miR-4324	CLIP-seq
MIRT2011990	hsa-miR-4649-3p	CLIP-seq
MIRT2011991	hsa-miR-544b	CLIP-seq
MIRT2244258	hsa-miR-4668-3p	CLIP-seq

Show/Hide all(20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 17140400, 18799622, 19273536, 21516116, 23414517, 25416956, 31515488, 31980649
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005813	Component	Centrosome	IBA	21873635
GO:0005813	Component	Centrosome	IDA	17140400
GO:0005829	Component	Cytosol	IDA
GO:0005874	Component	Microtubule	IEA
GO:0006897	Process	Endocytosis	TAS	9927460
GO:0007032	Process	Endosome organization	IMP	18799622
GO:0007040	Process	Lysosome organization	IMP	18799622
GO:0008017	Function	Microtubule binding	IBA	21873635
GO:0008333	Process	Endosome to lysosome transport	IMP	18799622
GO:0015031	Process	Protein transport	IEA
GO:0030705	Process	Cytoskeleton-dependent intracellular transport	IBA	21873635
GO:0030897	Component	HOPS complex	IDA	18799622
GO:0031122	Process	Cytoplasmic microtubule organization	IBA	21873635
GO:0042802	Function	Identical protein binding	IPI	18799622
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0045022	Process	Early endosome to late endosome transport	IMP	18799622
GO:0051959	Function	Dynein light intermediate chain binding	IBA	21873635
GO:0070695	Component	FHF complex	IDA	18799622

MIM	HGNC	e!Ensembl
607824	19885	ENSG00000095066

Protein

UniProt ID

Q96ED9

Protein name

Protein Hook homolog 2 (h-hook2) (hHK2)

Protein function

Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Contributes to the establishment and maintena

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF19047	HOOK_N	7 → 157	HOOK domain	Domain
PF05622	HOOK	179 → 705	HOOK protein coiled-coil region	Coiled-coil

Sequence

MSVDKAELCGSLLTWLQTFHVPSPCASPQDLSSGLAVAYVLNQIDPSWFNEAWLQGISED
PGPNWKLKVSNLKMVLRSLVEYSQDVLAHPVSEEHLPDVSLIGEFSDPAELGKLLQLVLG
CAISCEKKQDHIQRIMTLEESVQHVVMEAIQELMTKDTPDSLSPETYGNFDSQSRRYYFL
SEEAEEGDELQQRCLDLERQLMLLSEEKQSLAQENAGLRERMGRPEGEGTPGLTAKKLLL
LQSQLEQLQEENFRLESGREDERLRCAELEREVAELQHRNQALTSLAQEAQALKDEMDEL
RQSSERAGQLEATLTSCRRRLGELRELRRQVRQLEERNAGHAERTRQLEDELRRAGSLRA
QLEAQRRQVQELQGQRQEEAMKAEKWLFECRNLEEKYESVTKEKERLLAERDSLREANEE
LRCAQLQPRGLTQADPSLDPTSTPVDNLAAEILPAELRETLLRLQLENKRLCRQEAADRE
RQEELQRHLEDANRARHGLETQHRLNQQQLSELRAQVEDLQKALQEQGGKTEDAISILLK
RKLEEHLQKLHEADLELQRKREYIEELEPPTDSSTARRIEELQHNLQKKDADLRAMEERY
RRYVDKARMVMQTMEPKQRPAAGAPPELHSLRTQLRERDVRIRHLEMDFEKSRSQREQEE
KLLISAWYNMGMALQQRAGEERAPAHAQSFLAQQRLATNSRRGPLGRLASLNLRPTDKH

Sequence length

719

Interactions

View interactions

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
Aicardi goutieres syndrome	AICARDI-GOUTIERES SYNDROME, AICARDI-GOUTIERES SYNDROME 4	rs78635798, rs75184679, rs74555752, rs121434516, rs121434517, rs267607027, rs121434518, rs121434519, rs121434520, rs72556554, rs78218009, rs74556809, rs78408272, rs78846775, rs121908117 View all (95 more)	21454563, 17846997, 23592335, 20131292, 24183309
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451 View all (71 more)	29059683
Mega corpus callosum syndrome with cerebellar hyoplasia and cortical malformations	MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS	rs1568409494, rs1568409502, rs1568413207
Mental retardation	Moderate intellectual disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)

Show/Hide Unknown Diseases (5)

Disease term	Disease name	Evidence	References	Source
Unknown
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease		26503814	ClinVar
Neuroticism	Neuroticism			GWAS
Diabetes	Diabetes			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Metabolic Syndrome	Metabolic Syndrome			GWAS

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining
Diabetes Mellitus	Associate	32075680
Diabetes Mellitus Type 2	Associate	29228058
Metabolic Diseases	Associate	30782033
Obesity	Associate	29228058

HOOK2 (hook microtubule tethering protein 2)